AutismKB 2.0

Annotation Detail for HEBP2


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Basic Information Top
Gene Symbol:HEBP2 ( C6ORF34B,C6orf34,KIAA1244,PP23,SOUL )
Gene Full Name: heme binding protein 2
Band: 6q24.1
Quick LinksEntrez ID:23593; OMIM: 605825; Uniprot ID:HEBP2_HUMAN; ENSEMBL ID: ENSG00000051620; HGNC ID: 15716
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
179Phosphotyrosine.
181Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
101O-linkedHMM predict
104O-linkedHMM predict
174Phosphotyrosine(Syk)HMM predict
181Phosphoserine(CDC2)HMM predict
181Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014320
  • Location:chr6 138767028-138776274
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 138750383 138750830 447 16422
FoxA1 MCF7MACSdata 138750401 138750701 300 16478
TFAP2C MCF7GSE21234 138765234 138765675 441 1574
TFAP2C MCF7GSE21234 138766448 138767117 669 246
hScc1 G2GSE9613 138766433 138767459 1026 83
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 138791880 138792108 228 15720
CTCF CD4SISSRdata 138791880 138792108 228 15720
CTCF G2GSE9613 138787035 138787387 352 10937
CTCF G2GSE9613 138791629 138792623 994 15852
CTCF G2GSE9613 138793373 138793914 541 17369
Nanog hESGSE18292 138791846 138792157 311 15727
hScc1 BcellGSE12603 138791851 138792159 308 15731
hScc1 CdLSGSE12603 138791701 138792238 537 15695
hScc1 G2GSE9613 138791777 138792341 564 15785
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 138766580 138767705 1125 0
H3K4me3 colorectalcancer 138767604 138768157 553 0
H3ac HepG2E 138767604 138768157 553 0
H3ac HepG2E 138768714 138769247 533 0
P300 T30-glioblastomaGSE21026 138773948 138774661 713 0
p130 SenescentGSE19898 138774200 138774623 423 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
250 Unknown MicroArray miR-124 HEBP2 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000051620 G1-to-S transition n_a n_a "adipocyte, squamous cell, lymphocyte, leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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